Linked Data
dbSNP Id:
rs1168056773
gnomAD v2:
10-54531113-A-C
gnomAD v3:
10-52771353-A-C
gnomAD v4:
10-52771353-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52771353A>C , CM000672.2:g.52771353A>C | GRCh38 |
| NC_000010.10:g.54531113A>C , CM000672.1:g.54531113A>C | GRCh37 |
| NC_000010.9:g.54201119A>C | NCBI36 |
| NG_008196.1:g.5348T>G , LRG_154:g.5348T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674931.1:c.187+96T>G MANE Select | ENSP00000502789.1:n.187+96T>G | |
| ENST00000675947.1:c.187+96T>G | ENSP00000502615.1:n.187+96T>G | |
| ENST00000373968.3:c.187+96T>G | ENSP00000363079.3:n.187+96T>G | |
| NM_000242.2:c.187+96T>G , LRG_154t1:c.187+96T>G | NP_000233.1:n.187+96T>G | |
| XM_006717861.2:c.187+96T>G | XP_006717924.1:n.187+96T>G | |
| XM_011539816.1:c.187+96T>G | XP_011538118.1:n.187+96T>G | |
| XM_006717861.4:c.187+96T>G | XP_006717924.1:n.187+96T>G | |
| XM_011539816.3:c.187+96T>G | XP_011538118.1:n.187+96T>G | |
| NM_000242.3:c.187+96T>G | NP_000233.1:n.187+96T>G | |
| NM_001378373.1:c.187+96T>G MANE Select | NP_001365302.1:n.187+96T>G | |
| NM_001378374.1:c.187+96T>G | NP_001365303.1:n.187+96T>G |